Zobrazeno 1 - 5
of 5
pro vyhledávání: '"C. L. Tanganyika-de Winter"'
Autor:
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten
Publikováno v:
PLoS ONE, Vol 13, Iss 5, p e0197388 (2018)
Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy. Although over 350 causative mutations have bee
Externí odkaz:
https://doaj.org/article/fa66cd2594b746b490c907f0f29d5707
Autor:
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0182704 (2017)
Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the alpha- and delta sarcoglycan genes, respectively, leading to severe muscle weakness and degeneration. The cause of the diseas
Externí odkaz:
https://doaj.org/article/61057566ac8549cc815676a7a758b3f2
Autor:
Jaap J. Plomp, Kayleigh Putker, Annemieke Aartsma-Rus, M. Overzier, J. W. Boertje-van der Meulen, C. L. Tanganyika-de Winter, L. van Vliet, M. van Putten, S. Pasteuning-Vuhman
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 5, p e0197388 (2018)
PLoS ONE, 13(5)
PLoS ONE, Vol 13, Iss 5, p e0197388 (2018)
PLoS ONE, 13(5)
Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy. Although over 350 causative mutations have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2976bab718ff12d5daee04144d7656ca
https://hdl.handle.net/1887/77036
https://hdl.handle.net/1887/77036
Autor:
J. W. Boertje-van der Meulen, M. Overzier, Kayleigh Putker, L. van Vliet, C. L. Tanganyika-de Winter, Annemieke Aartsma-Rus, Jaap J. Plomp, M. van Putten, S. Pasteuning-Vuhman
Publikováno v:
PLoS ONE
PLoS ONE, Vol 12, Iss 8, p e0182704 (2017)
PLoS ONE, Vol 12, Iss 8, p e0182704 (2017)
Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the alpha- and delta sarcoglycan genes, respectively, leading to severe muscle weakness and degeneration. The cause of the diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f32819210ae42b1716349ed135cef04a
https://doi.org/10.1371/journal.pone.0182704
https://doi.org/10.1371/journal.pone.0182704
Autor:
M. van Putten, Annemieke Aartsma-Rus, M. Hiller, J.W. van der Meulen, C. L. Tanganyika-de Winter, P.C. de Visser, S.M.G. Jirka, Rick Vermue
Publikováno v:
Neuromuscular Disorders. 24:827-828
Duchenne muscular dystrophy (DMD) is a severe muscle wasting disorder caused by out of frame mutations in the dystrophin gene. Restoration of the reading frame would in theory allow the production of a shorter but partly functional dystrophin protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80b54662c7f76bc90a2a4aa0945671dd
https://doi.org/10.1016/j.nmd.2014.06.123
https://doi.org/10.1016/j.nmd.2014.06.123